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Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
Alhendi, Ahmed S N; Lim, Derek; McKee, Shane; McEntagart, Meriel; Tatton-Brown, Katriona; Temple, I Karen; Davies, Justin H; Mackay, Deborah J G.
Afiliação
  • Alhendi ASN; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Lim D; Department of Clinical Genetics, Birmingham Women's and Children's Hospital, Birmingham, UK.
  • McKee S; Department of Genetic Medicine, Belfast City Hospital, Belfast, UK.
  • McEntagart M; Department of Clinical Genetics, St George's Healthcare NHS Trust, London, UK.
  • Tatton-Brown K; Department of Clinical Genetics, St George's Healthcare NHS Trust, London, UK.
  • Temple IK; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Davies JH; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
  • Mackay DJG; Human Genetics and Genomic Medicine, Faculty of Medicine, University Hospital Southampton NHS Foundation Trust, Southampton, UK djgm@soton.ac.uk.
J Med Genet ; 59(6): 613-622, 2022 06.
Article em En | MEDLINE | ID: mdl-34135092
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Silver-Russell Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Síndrome de Silver-Russell Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Pregnancy Idioma: En Ano de publicação: 2022 Tipo de documento: Article